Multiplex PCR coupled with NGS provides a rapid, cost-effective and accurate method for comprehensive parallelized genetic testing of MODY. When compared to earlier reports, we have identified a higher frequency and a novel digenic mutation pattern involving NEUROD1 and PDX1 genes.

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Energy expenditure in patients with diabetes varies according to the composition and distribution of body fat and is lower in patients with FCPD. Standard predictive equations were not accurate for the assessment of energy expenditure in patients with FCPD. Further research is required to recommend specific nutritional therapy for this group of patients.

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